Analysis of ۶۱۷۴delT Mutation in BRCA۲ Gene by Mutagenically Separated PCR Among Libyan Patients with Breast Cancer

Background: Breast cancer is the most common malignancy among women. Itis estimated that ۱ in ۱۰ women worldwide is affected by breast cancer during theirlifetime. In ۵ to ۱۰% of breast cancer patients, the disease results from a hereditarypredisposition, which can be attributable to mutations in either of two tumorsuppressor genes, BRCA۱ and BRCA۲ to a large extent. BRCA۲ ۶۱۷۴delTmutation constitutes the common mutant alleles which predispose to hereditarybreast cancer in the Ashkenazi population with a reported carrier frequency of۱.۵۲% . In this study,we investigated the presence of the ۶۱۷۴delTmutation of theBRCA۲ gene in Libyan woman affected with breast cancer and compared theresults with those of other population groups.Methods: Eighty- five Libyan women with breast cancer in additions to ۵relatives of the patients (healthy individuals) were recruited to this study. Weobtained clinical information, family history, and peripheral blood for DNAextraction and analyzed the data using multiplex mutagenic polymerase chainreaction (MS-PCR) for detection of ۶۱۷۴delT mutation in theBRCA۲gene .Results: The ۶۱۷۴delT of the BRCA۲ gene was not detected either in the ۸۵patients with breast cancer (۱۸ with familial breast cancer and ۶۷ with sporadicbreast cancer) nor in the ۵ healthy individuals.Conclusions: The present study showed that the ۶۱۷۴delT of the BRCA۲ genewas not detectable using mutagenic PCR in the Libyan patients with breast cancerand can be considered to be exceedingly rare.

کلیدواژه ها:

BRCA۲ gene ، breast cancer ، polymorphisms ، ۶۱۷۴delT